loading...| Preferred Name |
Jacobsen Syndrome |
| Synonyms |
Jacobsen distal 11q deletion syndrome chromosome 11q deletion syndrome partial 11q monosomy syndrome |
| Definitions |
A chromosomal deletion syndrome that is characterized by growth retardation, psychomotor retardation, distinctive facial features, skeletal abnormalities, and isoimmune thrombocytopenia that has_material_basis_in deletion of terminal chromosome 11q. |
| ID |
http://purl.obolibrary.org/obo/DOID_0111723 |
| database_cross_reference |
OMIM:147791 GARD:307 MESH:D054868 ORDO:2308 |
| definition |
A chromosomal deletion syndrome that is characterized by growth retardation, psychomotor retardation, distinctive facial features, skeletal abnormalities, and isoimmune thrombocytopenia that has_material_basis_in deletion of terminal chromosome 11q. |
| has exact synonym |
Jacobsen distal 11q deletion syndrome chromosome 11q deletion syndrome partial 11q monosomy syndrome |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0111723 |
| in_subset | |
| label |
Jacobsen Syndrome |
| notation |
DOID:0111723 |
| prefLabel |
Jacobsen Syndrome |
| subClassOf |